Incidental Mutation 'IGL01068:Trpc1'
| ID |
51863 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trpc1
|
| Ensembl Gene |
ENSMUSG00000032839 |
| Gene Name |
transient receptor potential cation channel, subfamily C, member 1 |
| Synonyms |
Mtrp1, Trp1, Trrp1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
IGL01068
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
95587135-95632428 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 95608547 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 82
(D82G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140994
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053785]
[ENSMUST00000186235]
[ENSMUST00000189137]
[ENSMUST00000190497]
[ENSMUST00000190604]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053785
AA Change: D214G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057640
Gene: ENSMUSG00000032839
AA Change: D214G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
|
ANK
|
62 |
93 |
1.41e2 |
SMART |
|
ANK
|
99 |
129 |
2.11e1 |
SMART |
|
ANK
|
174 |
203 |
1.33e2 |
SMART |
|
Pfam:TRP_2
|
209 |
271 |
2.6e-27 |
PFAM |
|
transmembrane domain
|
367 |
386 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
407 |
673 |
5.9e-17 |
PFAM |
|
coiled coil region
|
770 |
794 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186235
AA Change: D82G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140994
Gene: ENSMUSG00000032839
AA Change: D82G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
15 |
44 |
7e-12 |
BLAST |
|
Pfam:TRP_2
|
50 |
105 |
1e-18 |
PFAM |
|
transmembrane domain
|
201 |
222 |
N/A |
INTRINSIC |
|
transmembrane domain
|
237 |
254 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000189137
AA Change: D248G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139672
Gene: ENSMUSG00000032839
AA Change: D248G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
|
ANK
|
62 |
93 |
1.41e2 |
SMART |
|
ANK
|
99 |
129 |
2.11e1 |
SMART |
|
ANK
|
174 |
203 |
1.33e2 |
SMART |
|
Pfam:TRP_2
|
209 |
271 |
1.8e-29 |
PFAM |
|
transmembrane domain
|
367 |
386 |
N/A |
INTRINSIC |
|
transmembrane domain
|
407 |
424 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
441 |
661 |
1.2e-21 |
PFAM |
|
coiled coil region
|
770 |
794 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190497
|
| SMART Domains |
Protein: ENSMUSP00000140550
Gene: ENSMUSG00000032839
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190604
|
| SMART Domains |
Protein: ENSMUSP00000139577
Gene: ENSMUSG00000032839
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane protein that can form a non-selective channel permeable to calcium and other cations. The encoded protein appears to be induced to form channels by a receptor tyrosine kinase-activated phosphatidylinositol second messenger system and also by depletion of intracellular calcium stores. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased body weight and a severe loss of salivary gland fluid secretion due to attenuation of store-operated Ca2+ currents. Surprisingly, no abnormalities are seen in store-operated or mechanosensitive cation channels in vascular smooth muscle cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406B18Rik |
T |
C |
7: 43,153,599 (GRCm39) |
|
probably benign |
Het |
| Adgra1 |
A |
G |
7: 139,425,541 (GRCm39) |
E18G |
probably damaging |
Het |
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Atg16l1 |
C |
T |
1: 87,702,546 (GRCm39) |
S269L |
probably damaging |
Het |
| Atp8a1 |
A |
G |
5: 67,824,680 (GRCm39) |
V853A |
probably benign |
Het |
| Bicral |
T |
C |
17: 47,136,317 (GRCm39) |
I298V |
probably damaging |
Het |
| Cad |
A |
G |
5: 31,219,114 (GRCm39) |
|
probably benign |
Het |
| Chd9 |
A |
T |
8: 91,768,744 (GRCm39) |
Y2448F |
probably benign |
Het |
| Clstn3 |
A |
G |
6: 124,439,098 (GRCm39) |
L16S |
probably damaging |
Het |
| Cmtr2 |
G |
A |
8: 110,949,501 (GRCm39) |
V604M |
possibly damaging |
Het |
| Ctcf |
A |
T |
8: 106,408,117 (GRCm39) |
|
probably benign |
Het |
| Eif2ak2 |
A |
G |
17: 79,172,800 (GRCm39) |
I295T |
probably damaging |
Het |
| Foxm1 |
G |
A |
6: 128,347,930 (GRCm39) |
R284H |
possibly damaging |
Het |
| Gabra2 |
T |
C |
5: 71,119,415 (GRCm39) |
I362M |
probably benign |
Het |
| Hivep1 |
C |
A |
13: 42,313,460 (GRCm39) |
P1900Q |
probably benign |
Het |
| Klhl25 |
G |
T |
7: 75,515,897 (GRCm39) |
E268* |
probably null |
Het |
| Klk1b16 |
T |
C |
7: 43,790,102 (GRCm39) |
L124P |
probably damaging |
Het |
| Ltf |
A |
T |
9: 110,864,880 (GRCm39) |
|
probably null |
Het |
| Mpped2 |
T |
A |
2: 106,695,091 (GRCm39) |
H248Q |
probably damaging |
Het |
| Mrpl1 |
T |
A |
5: 96,371,895 (GRCm39) |
|
probably benign |
Het |
| Mthfd1l |
T |
A |
10: 3,978,428 (GRCm39) |
S429R |
probably damaging |
Het |
| Myl2 |
G |
A |
5: 122,244,767 (GRCm39) |
V146I |
probably benign |
Het |
| Myo10 |
T |
A |
15: 25,739,395 (GRCm39) |
I527N |
possibly damaging |
Het |
| Ncoa3 |
T |
C |
2: 165,894,715 (GRCm39) |
S333P |
probably damaging |
Het |
| Or1j4 |
T |
G |
2: 36,740,282 (GRCm39) |
S75A |
probably damaging |
Het |
| Or4k47 |
T |
G |
2: 111,451,685 (GRCm39) |
T245P |
probably damaging |
Het |
| Oxct1 |
T |
C |
15: 4,083,246 (GRCm39) |
F155S |
probably damaging |
Het |
| P4ha1 |
T |
C |
10: 59,175,157 (GRCm39) |
V39A |
probably damaging |
Het |
| Padi6 |
G |
T |
4: 140,458,264 (GRCm39) |
T514N |
possibly damaging |
Het |
| Pgm2 |
G |
A |
5: 64,265,139 (GRCm39) |
V387I |
probably damaging |
Het |
| Ppt1 |
G |
A |
4: 122,737,800 (GRCm39) |
C46Y |
probably damaging |
Het |
| Rnf225 |
T |
C |
7: 12,662,827 (GRCm39) |
|
probably benign |
Het |
| Rpl26 |
T |
C |
11: 68,793,224 (GRCm39) |
Y42H |
probably benign |
Het |
| Rundc1 |
A |
G |
11: 101,324,968 (GRCm39) |
N558S |
probably damaging |
Het |
| Sema3e |
T |
G |
5: 14,283,732 (GRCm39) |
|
probably null |
Het |
| Slc8a1 |
T |
C |
17: 81,696,371 (GRCm39) |
I888V |
probably benign |
Het |
| Thsd7b |
T |
C |
1: 129,523,883 (GRCm39) |
C306R |
probably damaging |
Het |
| Tmem209 |
A |
C |
6: 30,502,085 (GRCm39) |
L197R |
probably benign |
Het |
| Tmem38b |
T |
G |
4: 53,849,024 (GRCm39) |
V119G |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,806,763 (GRCm39) |
F2094L |
probably damaging |
Het |
| Zfp638 |
C |
T |
6: 83,911,976 (GRCm39) |
R453W |
probably damaging |
Het |
|
| Other mutations in Trpc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02094:Trpc1
|
APN |
9 |
95,625,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02412:Trpc1
|
APN |
9 |
95,618,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02494:Trpc1
|
APN |
9 |
95,590,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02943:Trpc1
|
APN |
9 |
95,590,906 (GRCm39) |
splice site |
probably benign |
|
|
IGL03025:Trpc1
|
APN |
9 |
95,592,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03221:Trpc1
|
APN |
9 |
95,588,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Enlarged
|
UTSW |
9 |
95,603,524 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
luxus
|
UTSW |
9 |
95,603,185 (GRCm39) |
critical splice donor site |
probably null |
|
|
Magnified
|
UTSW |
9 |
95,608,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4581001:Trpc1
|
UTSW |
9 |
95,618,974 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0034:Trpc1
|
UTSW |
9 |
95,631,814 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1973:Trpc1
|
UTSW |
9 |
95,605,308 (GRCm39) |
missense |
probably benign |
|
|
R2033:Trpc1
|
UTSW |
9 |
95,588,896 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2117:Trpc1
|
UTSW |
9 |
95,599,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2262:Trpc1
|
UTSW |
9 |
95,588,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2910:Trpc1
|
UTSW |
9 |
95,631,895 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2918:Trpc1
|
UTSW |
9 |
95,605,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3156:Trpc1
|
UTSW |
9 |
95,603,185 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3427:Trpc1
|
UTSW |
9 |
95,614,249 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4093:Trpc1
|
UTSW |
9 |
95,588,918 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4384:Trpc1
|
UTSW |
9 |
95,614,161 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4787:Trpc1
|
UTSW |
9 |
95,603,468 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5327:Trpc1
|
UTSW |
9 |
95,603,524 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5576:Trpc1
|
UTSW |
9 |
95,603,377 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6320:Trpc1
|
UTSW |
9 |
95,603,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6499:Trpc1
|
UTSW |
9 |
95,608,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6714:Trpc1
|
UTSW |
9 |
95,605,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7179:Trpc1
|
UTSW |
9 |
95,603,197 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7265:Trpc1
|
UTSW |
9 |
95,590,328 (GRCm39) |
missense |
probably benign |
|
|
R8169:Trpc1
|
UTSW |
9 |
95,592,323 (GRCm39) |
nonsense |
probably null |
|
|
R8288:Trpc1
|
UTSW |
9 |
95,603,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8342:Trpc1
|
UTSW |
9 |
95,608,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9276:Trpc1
|
UTSW |
9 |
95,590,288 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9317:Trpc1
|
UTSW |
9 |
95,603,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9509:Trpc1
|
UTSW |
9 |
95,625,249 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9529:Trpc1
|
UTSW |
9 |
95,592,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9784:Trpc1
|
UTSW |
9 |
95,599,646 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9800:Trpc1
|
UTSW |
9 |
95,625,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Trpc1
|
UTSW |
9 |
95,614,097 (GRCm39) |
missense |
probably benign |
0.36 |
|
Z1176:Trpc1
|
UTSW |
9 |
95,605,269 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-06-21 |
Incidental Mutation